Variant report

Variant	esv3454967
Chromosome Location	chr21:16586481-16591979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16584216..16586791-chr21:16587079..16588631,2	MCF-7	breast:
2	chr21:16584216..16586791-chr21:16587079..16588631,2	MCF-7	breast:
3	chr21:16584909..16587844-chr21:16591132..16593725,3	K562	blood:
4	chr21:16586940..16589372-chr21:16591214..16594501,3	MCF-7	breast:
5	chr21:16584909..16587844-chr21:16591132..16593725,3	K562	blood:
6	chr21:16584349..16587030-chr21:16664217..16666665,2	MCF-7	breast:
7	chr21:16586940..16589372-chr21:16591214..16594501,3	MCF-7	breast:
8	chr21:16586904..16589804-chr21:16590773..16592275,2	K562	blood:
9	chr21:16249191..16252092-chr21:16587437..16590052,2	MCF-7	breast:
10	chr21:16421751..16443998-chr21:16557859..16589610,273	MCF-7	breast:
11	chr21:16581111..16587442-chr21:16661859..16666667,10	MCF-7	breast:
12	chr21:16586904..16589804-chr21:16590773..16592275,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRIP1-5	chr21:16588147-16588197	NONHSAT081196

No data

Variant related genes	Relation type
ENSG00000180530	chromatin interactions
ENSG00000236471	chromatin interactions

Extended variants
information (count: 314 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112945596	chr21:16586498-16586499	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs544636367	chr21:16586525-16586526	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs560688622	chr21:16586526-16586527	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2823151	chr21:16586551-16586552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542751570	chr21:16586584-16586585	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188358896	chr21:16586612-16586613	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs13053033	chr21:16586623-16586624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554153331	chr21:16586664-16586665	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551126830	chr21:16586669-16586670	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12106385	chr21:16586682-16586683	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs13046108	chr21:16586731-16586732	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527604842	chr21:16586748-16586749	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs149911548	chr21:16586769-16586770	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2823152	chr21:16586772-16586773	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535510764	chr21:16586797-16586798	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549454182	chr21:16586832-16586833	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs74902060	chr21:16586839-16586840	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538222853	chr21:16586840-16586841	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143948398	chr21:16586855-16586856	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs193280329	chr21:16586947-16586948	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs574147770	chr21:16587010-16587011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs374965196	chr21:16587011-16587012	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs554364890	chr21:16587046-16587047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185492400	chr21:16587073-16587074	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562479526	chr21:16587117-16587118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs2823153	chr21:16587118-16587119	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562590631	chr21:16587200-16587201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545019395	chr21:16587250-16587251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs576088041	chr21:16587265-16587266	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544963023	chr21:16587266-16587267	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565066930	chr21:16587288-16587289	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187927102	chr21:16587302-16587303	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs191313154	chr21:16587314-16587315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs142067312	chr21:16587317-16587318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs184188763	chr21:16587335-16587336	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs188517308	chr21:16587341-16587342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs181250323	chr21:16587383-16587384	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529830772	chr21:16587387-16587388	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs549743923	chr21:16587388-16587389	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs112786282	chr21:16587389-16587390	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537974975	chr21:16587403-16587404	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531179768	chr21:16587430-16587431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs551717312	chr21:16587472-16587473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs9808777	chr21:16587477-16587478	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs2823154	chr21:16587487-16587488	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs370010085	chr21:16587533-16587534	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554499842	chr21:16587544-16587545	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs567997917	chr21:16587587-16587588	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs566597978	chr21:16587590-16587591	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs533880921	chr21:16587736-16587737	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16583800-16586600	Enhancers	HepG2	liver
2	chr21:16585400-16587800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:16585400-16592000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr21:16585600-16591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:16586000-16591400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr21:16586400-16592400	Weak transcription	Liver	Liver
7	chr21:16586600-16587800	Weak transcription	HepG2	liver
8	chr21:16587800-16588600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:16588600-16591400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:16590200-16592200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:16591200-16591400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:16591200-16592200	Weak transcription	HepG2	liver
13	chr21:16591400-16592200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:16591400-16592200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr21:16591400-16592400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:16591400-16592400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:16591400-16595200	Enhancers	Primary hematopoietic stem cells	blood
18	chr21:16591600-16597400	Enhancers	Primary monocytes fromperipheralblood	blood

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